BACKGROUND Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. CASE PRESENTATION The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguine...

There has been considerable controversy about the action of heparin on mitosis. Early workers in tissue culture routinely used heparizined plasma without apparent inhibition of growth (2). Later, however, several investigators reported that hepa rin inhibited mitosis either in vitro or in vivo (1, 4, 5, 15), although others found it was not in hibitory (8, 10, 14). A search is being made in our...

DNA double-strand breaks (DSBs) pose a serious threat to genomic integrity. If unrepaired, they can lead to chromosome fragmentation and cell death. If repaired incorrectly, they can cause mutations and chromosome rearrangements. DSBs are repaired using end-joining or homology-directed repair strategies, with the predominant form of homology-directed repair being synthesis-dependent strand anne...